rs794729289
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs794729289(G;T) |
Make rs794729289(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 178567954 |
Gene | TTN, TTN-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs794729289 |
dbSNP (classic) | rs794729289 |
ClinGen | rs794729289 |
ebi | rs794729289 |
HLI | rs794729289 |
Exac | rs794729289 |
Gnomad | rs794729289 |
Varsome | rs794729289 |
LitVar | rs794729289 |
Map | rs794729289 |
PheGenI | rs794729289 |
Biobank | rs794729289 |
1000 genomes | rs794729289 |
hgdp | rs794729289 |
ensembl | rs794729289 |
geneview | rs794729289 |
scholar | rs794729289 |
rs794729289 | |
pharmgkb | rs794729289 |
gwascentral | rs794729289 |
openSNP | rs794729289 |
23andMe | rs794729289 |
SNPshot | rs794729289 |
SNPdbe | rs794729289 |
MSV3d | rs794729289 |
GWAS Ctlg | rs794729289 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794729289(T;T) |
Alt | rs794729289(T;T) |
Reference | Rs794729289(G;G) |
Significance | Pathogenic |
Disease | not provided Limb-girdle muscular dystrophy |
Variation | info |
Gene | TTN TTN-AS1 |
CLNDBN | not provided Limb-girdle muscular dystrophy, type 2J |
Reversed | 1 |
HGVS | NC_000002.11:g.179432681C>A |
CLNSRC | |
CLNACC | RCV000184265.2, RCV000331747.1, |